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Aliases for MYH7 Gene

Aliases for MYH7 Gene

  • Myosin, Heavy Chain 7, Cardiac Muscle, Beta 2 3 5
  • Myosin, Heavy Polypeptide 7, Cardiac Muscle, Beta 2 3
  • Myosin Heavy Chain, Cardiac Muscle Beta Isoform 3 4
  • Myosin Heavy Chain Slow Isoform 3 4
  • Myopathy, Distal 1 2 3
  • MyHC-Beta 3 4
  • Myhc-Slow 3 4
  • MYHCB 3 4
  • Rhabdomyosarcoma Antigen MU-RMS-40.7A 3
  • Myosin Heavy Chain 7 4
  • CMD1S 3
  • SPMD 3
  • SPMM 3
  • CMH1 3
  • MPD1 3

External Ids for MYH7 Gene

Previous HGNC Symbols for MYH7 Gene

  • CMH1
  • MPD1

Previous GeneCards Identifiers for MYH7 Gene

  • GC14M021254
  • GC14M017669
  • GC14M021872
  • GC14M022951
  • GC14M023881
  • GC14M003998

Summaries for MYH7 Gene

Entrez Gene Summary for MYH7 Gene

  • Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYH7 Gene

MYH7 (Myosin, Heavy Chain 7, Cardiac Muscle, Beta) is a Protein Coding gene. Diseases associated with MYH7 include Liang Distal Myopathy and Scapuloperoneal Syndrome, Myopathic Type. Among its related pathways are ERK Signaling and Allograft rejection. GO annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is MYH4.

UniProtKB/Swiss-Prot for MYH7 Gene

  • Muscle contraction.

Tocris Summary for MYH7 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.

Gene Wiki entry for MYH7 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH7 Gene

Genomics for MYH7 Gene

Regulatory Elements for MYH7 Gene

Enhancers for MYH7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MYH7 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYH7 Gene

Chromosome:
14
Start:
23,412,738 bp from pter
End:
23,435,718 bp from pter
Size:
22,981 bases
Orientation:
Minus strand

Genomic View for MYH7 Gene

Genes around MYH7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH7 Gene

Proteins for MYH7 Gene

  • Protein details for MYH7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12883-MYH7_HUMAN
    Recommended name:
    Myosin-7
    Protein Accession:
    P12883
    Secondary Accessions:
    • A2TDB6
    • B6D424
    • Q14836
    • Q14837
    • Q14904
    • Q16579
    • Q2M1Y6
    • Q92679
    • Q9H1D5
    • Q9UDA2
    • Q9UMM8

    Protein attributes for MYH7 Gene

    Size:
    1935 amino acids
    Molecular mass:
    223097 Da
    Quaternary structure:
    • Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with ECM29.
    Miscellaneous:
    • The cardiac alpha isoform is a fast ATPase myosin, while the beta isoform is a slow ATPase.

    Three dimensional structures from OCA and Proteopedia for MYH7 Gene

neXtProt entry for MYH7 Gene

Proteomics data for MYH7 Gene at MOPED

Post-translational modifications for MYH7 Gene

  • Ubiquitination at Lys 207, Lys 213, Lys 1531, and Lys 1537
  • Modification sites at PhosphoSitePlus

Other Protein References for MYH7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MYH7 Gene

Domains & Families for MYH7 Gene

Gene Families for MYH7 Gene

Graphical View of Domain Structure for InterPro Entry

P12883

UniProtKB/Swiss-Prot:

MYH7_HUMAN :
  • The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Domain:
  • The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
  • Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).
  • Contains 1 IQ domain.
  • Contains 1 myosin motor domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYH7: view

Function for MYH7 Gene

Molecular function for MYH7 Gene

GENATLAS Biochemistry:
myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 7,cardiac muscle,beta
UniProtKB/Swiss-Prot Function:
Muscle contraction.

Gene Ontology (GO) - Molecular Function for MYH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity NAS 3021460
GO:0003774 motor activity IEA --
GO:0030898 actin-dependent ATPase activity IMP 16088376
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with MYH7: view
genes like me logo Genes that share phenotypes with MYH7: view

Human Phenotype Ontology for MYH7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYH7 Gene

MGI Knock Outs for MYH7:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for MYH7 Gene

Localization for MYH7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH7 Gene

Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYH7 Gene COMPARTMENTS Subcellular localization image for MYH7 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
endoplasmic reticulum 2
plasma membrane 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MYH7: view

Pathways & Interactions for MYH7 Gene

genes like me logo Genes that share pathways with MYH7: view

Gene Ontology (GO) - Biological Process for MYH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006941 striated muscle contraction IDA 15621050
GO:0014728 regulation of the force of skeletal muscle contraction IMP 7883988
GO:0014883 transition between fast and slow fiber IEA --
GO:0030049 muscle filament sliding IMP 8514894
GO:0046034 ATP metabolic process IDA 15621050
genes like me logo Genes that share ontologies with MYH7: view

No data available for SIGNOR curated interactions for MYH7 Gene

Drugs & Compounds for MYH7 Gene

(20) Drugs for MYH7 Gene - From: DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-[4-(2,5-DIOXO-PYRROLIDIN-1-YL)-PHENYLAMINO]-4-HYDROXY-BUTYRIC ACID Experimental Pharma Target 0
Omecamtiv mecarbil Pharma Cardiac myosin activator 0

(14) Additional Compounds for MYH7 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(R)-(+)-Blebbistatin
1177356-70-5
(S)-(-)-Blebbistatin
856925-71-8
ML 9 hydrochloride
105637-50-1
W-7 hydrochloride
61714-27-0

(5) Tocris Compounds for MYH7 Gene

Compound Action Cas Number
(+-)-Blebbistatin Selective inhibitor of myosin II ATPase activity 674289-55-5
(R)-(+)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 1177356-70-5
(S)-(-)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760) 856925-71-8
ML 9 hydrochloride Myosin light chain kinase inhibitor 105637-50-1
W-7 hydrochloride Calmodulin antagonist. Inhibits myosin light chain kinase 61714-27-0

(1) ApexBio Compounds for MYH7 Gene

Compound Action Cas Number
Omecamtiv mecarbil Cardiac myosin activator 873697-71-3
genes like me logo Genes that share compounds with MYH7: view

Transcripts for MYH7 Gene

mRNA/cDNA for MYH7 Gene

(1) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(640) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYH7 Gene

Myosin, heavy chain 7, cardiac muscle, beta:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYH7 Gene

No ASD Table

Relevant External Links for MYH7 Gene

GeneLoc Exon Structure for
MYH7
ECgene alternative splicing isoforms for
MYH7

Expression for MYH7 Gene

mRNA expression in normal human tissues for MYH7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH7 Gene

This gene is overexpressed in Heart - Left Ventricle (x30.2) and Muscle - Skeletal (x18.9).

Protein differential expression in normal tissues from HIPED for MYH7 Gene

This gene is overexpressed in Heart (41.3), Fetal heart (18.3), and Esophagus (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MYH7 Gene



SOURCE GeneReport for Unigene cluster for MYH7 Gene Hs.719946

mRNA Expression by UniProt/SwissProt for MYH7 Gene

P12883-MYH7_HUMAN
Tissue specificity: Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level).
genes like me logo Genes that share expression patterns with MYH7: view

Protein tissue co-expression partners for MYH7 Gene

- Elite partner

Primer Products

Orthologs for MYH7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MYH7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYH7 35
  • 93.06 (n)
  • 97.57 (a)
MYH7 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH7 35
  • 93.13 (n)
  • 98.14 (a)
MYH7 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myh7 35
  • 91.97 (n)
  • 97.52 (a)
Myh7 16
Myh7 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYH7 35
  • 97.06 (n)
  • 97 (a)
rat
(Rattus norvegicus)
Mammalia Myh7 35
  • 91.66 (n)
  • 97.21 (a)
oppossum
(Monodelphis domestica)
Mammalia MYH7 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYH7 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYH7 35
  • 82.23 (n)
  • 88.68 (a)
MYH7 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 88 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia myh7 35
  • 77.26 (n)
  • 89.25 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
LOC567740 35
  • 78.05 (n)
  • 86.7 (a)
CR450736.2 36
  • 86 (a)
ManyToMany
CU633479.5 36
  • 86 (a)
ManyToMany
CU633479.6 36
  • 86 (a)
ManyToMany
si:ch211-24n20.3 36
  • 86 (a)
ManyToMany
smyhc1 36
  • 85 (a)
ManyToMany
smyhc2 36
  • 86 (a)
ManyToMany
smyhc3 36
  • 86 (a)
ManyToMany
vmhc 36
  • 86 (a)
ManyToMany
vmhcl 36
  • 86 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Mhc 37
  • 51 (a)
Prm 37
  • 35 (a)
Mhc 35
  • 62.83 (n)
  • 56.52 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010147 35
  • 59.38 (n)
  • 51.11 (a)
worm
(Caenorhabditis elegans)
Secernentea F45G2.2 37
  • 45 (a)
F58G4.1 37
  • 49 (a)
hcp-1 37
  • 20 (a)
hcp-2 37
  • 21 (a)
myo-3 37
  • 48 (a)
Y11D7A.14 37
  • 28 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR068W 35
  • 48.21 (n)
  • 39.98 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11595g 35
  • 43.52 (n)
  • 35.69 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO1 35
  • 48.09 (n)
  • 42.4 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myo2 35
  • 46.05 (n)
  • 39.12 (a)
Species with no ortholog for MYH7:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYH7 Gene

ENSEMBL:
Gene Tree for MYH7 (if available)
TreeFam:
Gene Tree for MYH7 (if available)

Paralogs for MYH7 Gene

Paralogs for MYH7 Gene

genes like me logo Genes that share paralogs with MYH7: view

Variants for MYH7 Gene

Sequence variations from dbSNP and Humsavar for MYH7 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs186964570 Cardiomyopathy, familial hypertrophic 1 (CMH1) 23,433,656(+) TCTGC(A/G)CTTCT nc-transcript-variant, reference, missense
VAR_004567 Cardiomyopathy, familial hypertrophic 1 (CMH1)
VAR_004568 Cardiomyopathy, familial hypertrophic 1 (CMH1)
rs3218713 Cardiomyopathy, familial hypertrophic 1 (CMH1) 23,431,468(-) CATTC(A/G)AATTC nc-transcript-variant, reference, missense
VAR_004570 Cardiomyopathy, familial hypertrophic 1 (CMH1)

Structural Variations from Database of Genomic Variants (DGV) for MYH7 Gene

Variant ID Type Subtype PubMed ID
nsv901493 CNV Loss 21882294
esv2748480 CNV Deletion 23290073
nsv470623 CNV Gain 18288195
nsv456166 CNV Gain 19166990

Variation tolerance for MYH7 Gene

Residual Variation Intolerance Score: 0.289% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.26; 40.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYH7 Gene

Human Gene Mutation Database (HGMD)
MYH7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH7 Gene

Disorders for MYH7 Gene

MalaCards: The human disease database

(47) MalaCards diseases for MYH7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
liang distal myopathy
  • welander distal myopathy
scapuloperoneal syndrome, myopathic type
  • myh7-related scapuloperoneal myopathy
cardiomyopathy, dilated, 1e
  • cardiomyopathy, dilated, 1s
cardiomyopathy, familial hypertrophic
  • cardiomyopathy, hypertrophic, 1
myopathy, myosin storage, autosomal dominant
  • hyaline body myopathy autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search MYH7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYH7_HUMAN
  • Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:11106718, ECO:0000269 PubMed:12379228, ECO:0000269 PubMed:15769782, ECO:0000269 PubMed:18506004, ECO:0000269 PubMed:21127202, ECO:0000269 PubMed:21846512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:10065021, ECO:0000269 PubMed:10329202, ECO:0000269 PubMed:10521296, ECO:0000269 PubMed:10563488, ECO:0000269 PubMed:10679957, ECO:0000269 PubMed:10862102, ECO:0000269 PubMed:11113006, ECO:0000269 PubMed:11133230, ECO:0000269 PubMed:11214007, ECO:0000269 PubMed:11424919, ECO:0000269 PubMed:11733062, ECO:0000269 PubMed:11861413, ECO:0000269 PubMed:11968089, ECO:0000269 PubMed:12081993, ECO:0000269 PubMed:12566107, ECO:0000269 PubMed:12590187, ECO:0000269 PubMed:12707239, ECO:0000269 PubMed:12818575, ECO:0000269 PubMed:12820698, ECO:0000269 PubMed:12951062, ECO:0000269 PubMed:12974739, ECO:0000269 PubMed:12975413, ECO:0000269 PubMed:1417858, ECO:0000269 PubMed:15358028, ECO:0000269 PubMed:15483641, ECO:0000269 PubMed:1552912, ECO:0000269 PubMed:15563892, ECO:0000269 PubMed:15856146, ECO:0000269 PubMed:15858117, ECO:0000269 PubMed:16199542, ECO:0000269 PubMed:16267253, ECO:0000269 PubMed:1638703, ECO:0000269 PubMed:16650083, ECO:0000269 PubMed:16938236, ECO:0000269 PubMed:17372140, ECO:0000269 PubMed:18175163, ECO:0000269 PubMed:18403758, ECO:0000269 PubMed:1975517, ECO:0000269 PubMed:25182012, ECO:0000269 PubMed:7581410, ECO:0000269 PubMed:7731997, ECO:0000269 PubMed:7848441, ECO:0000269 PubMed:7874131, ECO:0000269 PubMed:8250038, ECO:0000269 PubMed:8254035, ECO:0000269 PubMed:8268932, ECO:0000269 PubMed:8282798, ECO:0000269 PubMed:8343162, ECO:0000269 PubMed:8435239, ECO:0000269 PubMed:8483915, ECO:0000269 PubMed:8655135, ECO:0000269 PubMed:8899546, ECO:0000269 PubMed:9544842, ECO:0000269 PubMed:9822100, ECO:0000269 PubMed:9829907}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, distal, 1 (MPD1) [MIM:160500]: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. {ECO:0000269 PubMed:15322983, ECO:0000269 PubMed:17548557}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, myosin storage, autosomal dominant (MSMA) [MIM:608358]: A rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers. {ECO:0000269 PubMed:14520662, ECO:0000269 PubMed:15136674, ECO:0000269 PubMed:16684601, ECO:0000269 PubMed:17336526}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, myosin storage, autosomal recessive (MSMB) [MIM:255160]: An autosomal recessive form of myosin storage myopathy, a muscle disease characterized by subsarcolemmal accumulation of hyalinized bodies in type 1 muscle fibers. MSMB clinical features include muscle weakness, type II respiratory failure and cardiac failure, due to hypertrophic cardiomyopathy. {ECO:0000269 PubMed:25666907}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. {ECO:0000269 PubMed:17336526}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYH7

Genetic Association Database (GAD)
MYH7
Human Genome Epidemiology (HuGE) Navigator
MYH7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYH7
genes like me logo Genes that share disorders with MYH7: view

No data available for Genatlas for MYH7 Gene

Publications for MYH7 Gene

  1. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. (PMID: 15769782) Villard E. … Komajda M. (Eur. Heart J. 2005) 3 4 23 48 67
  2. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1). (PMID: 15322983) Meredith C. … Laing N.G. (Am. J. Hum. Genet. 2004) 2 3 23
  3. Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. (PMID: 8483915) Fananapazir L. … Epstein N.D. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 3 23
  4. Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations. (PMID: 19864899) Walsh R. … Loughna S. (Cardiology 2010) 3 23
  5. Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy. (PMID: 18953637) Rai T.S. … Khullar M. (Mol. Cell. Biochem. 2009) 3 23

Products for MYH7 Gene

Sources for MYH7 Gene

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